Variant report

Variant	rs4961728
Chromosome Location	chr9:16627194-16627195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1003069	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs1003070	0.90[EUR][1000 genomes]
rs1029015	0.85[CHB][hapmap]
rs10756773	0.90[CHB][hapmap]
rs10810579	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10810580	0.88[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10810581	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs10962519	0.84[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10962520	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs11790341	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs13290470	0.85[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1415471	0.84[CHB][hapmap]
rs1890074	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs2050617	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2275256	0.84[CHB][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4131372	0.88[EUR][1000 genomes]
rs4961727	0.82[CEU][hapmap];0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs7019299	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7033512	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7043298	0.90[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs7046245	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs958557	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv430000	chr9:16603483-16671045	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16622400-16628600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:16622400-16628600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:16622400-16628800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:16622600-16628600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:16623200-16628000	Enhancers	Fetal Lung	lung
6	chr9:16624000-16628200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:16624200-16627600	Enhancers	Dnd41	blood
8	chr9:16624200-16629000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:16624200-16629200	Enhancers	Fetal Stomach	stomach
10	chr9:16624200-16630400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:16624400-16627800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:16624400-16628800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr9:16624600-16628800	Enhancers	Fetal Kidney	kidney
14	chr9:16624800-16628600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr9:16624800-16628800	Enhancers	Fetal Thymus	thymus
16	chr9:16625000-16628400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:16625000-16630000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:16625200-16627800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:16625400-16627200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:16625400-16627200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:16625400-16627400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr9:16625400-16627800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:16625600-16627200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr9:16625600-16627200	Bivalent Enhancer	Fetal Heart	heart
25	chr9:16625600-16629000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:16625800-16627200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:16625800-16627200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:16625800-16627600	Flanking Active TSS	HSMMtube	muscle
29	chr9:16625800-16628200	Enhancers	Ovary	ovary
30	chr9:16625800-16629600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:16625800-16629600	Enhancers	Fetal Muscle Leg	muscle
32	chr9:16626000-16627200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:16626000-16627200	Flanking Active TSS	A549	lung
34	chr9:16626000-16628200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr9:16626200-16627200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:16626200-16627800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr9:16626400-16627200	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr9:16626400-16627200	Flanking Active TSS	HUVEC	blood vessel
39	chr9:16626400-16627200	Enhancers	NHEK	skin
40	chr9:16626400-16627400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr9:16626400-16627400	Flanking Active TSS	NHDF-Ad	bronchial
42	chr9:16626400-16627800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr9:16626400-16628200	Enhancers	Aorta	Aorta
44	chr9:16626600-16627200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr9:16626600-16627200	Bivalent Enhancer	Fetal Brain Male	brain
46	chr9:16626600-16627400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:16626600-16627400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr9:16626600-16628600	Enhancers	Adipose Nuclei	Adipose
49	chr9:16626600-16628800	Enhancers	Brain Germinal Matrix	brain
50	chr9:16626800-16627200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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